KEGG   DISEASE: Basal cell carcinomaHelp
Entry
H00039                      Disease                                

Name
Basal cell carcinoma
Description
Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Skin cancers
   H00039  Basal cell carcinoma
Human diseases in ICD-10 classification [BR:br08403]
 2. Neoplasms (C00-D48)
  C43-C44  Melanoma and other malignant neoplasms of skin
   C44  Other malignant neoplasms of skin
    H00039  Basal cell carcinoma
Cancer-accociated carbohydrates [br08441.html]
 H00039
BRITE hierarchy
Pathway
hsa05217  Basal cell carcinoma
Network
N00010  Mutation-inactivated PTCH1 to Hedgehog signaling pathway
N00017  Mutation-activated SMO to Hedgehog signaling pathway
N00115  Mutation-inactivated TP53 to transcription
Gene
SHH (germline, somatic mutation) [HSA:6469] [KO:K11988]
SMO (somatic mutation) [HSA:6608] [KO:K06226]
p53 (mutation) [HSA:7157] [KO:K04451]
PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225]
Carcinogen
Arsenic in drinking-water
Solar radiation
*Benzo[a]pyrene [CPD:C07535]
*Chimney sweeping
*Mineral oils, untreated and mildly treated
*: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.
Drug
Fluorouracil [DR:D00584]
Vismodegib [DR:D09992]
Sonidegib phosphate [DR:D10729]
Comment
ICD-O: 8090/3, Tumor type: Basal cell carcinoma
Other DBs
ICD-10: C44
MeSH: D002280
Reference
PMID:15978322 (gene, tumor type)
  Authors
Daya-Grosjean L, Couve-Privat S.
  Title
Sonic hedgehog signaling in basal cell carcinomas.
  Journal
Cancer Lett 225:181-92 (2005)
DOI:10.1016/j.canlet.2004.10.003
Reference
PMID:16541145 (gene)
  Authors
Khavari PA.
  Title
Modelling cancer in human skin tissue.
  Journal
Nat Rev Cancer 6:270-80 (2006)
DOI:10.1038/nrc1838
Reference
PMID:15468170 (gene)
  Authors
Tsai KY, Tsao H.
  Title
The genetics of skin cancer.
  Journal
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:10.1002/ajmg.c.30037
Reference
PMID:14643412 (carcinogen)
  Authors
Rossman TG.
  Title
Mechanism of arsenic carcinogenesis: an integrated approach.
  Journal
Mutat Res 533:37-65 (2003)
DOI:10.1016/j.mrfmmm.2003.07.009
Reference
PMID:17244035 (carcinogen)
  Authors
Walvekar RR, Kane SV, Nadkarni MS, Bagwan IN, Chaukar DA, D'Cruz AK.
  Title
Chronic arsenic poisoning: a global health issue -- a report of multiple primary cancers.
  Journal
J Cutan Pathol 34:203-6 (2007)
DOI:10.1111/j.1600-0560.2006.00596.x
Reference
PMID:15701081 (carcinogen)
  Authors
Hussein MR.
  Title
Ultraviolet radiation and skin cancer: molecular mechanisms.
  Journal
J Cutan Pathol 32:191-205 (2005)
DOI:10.1111/j.0303-6987.2005.00281.x
Reference
PMID:15660110 (carcinogen)
  Authors
Luch A.
  Title
Nature and nurture - lessons from chemical carcinogenesis.
  Journal
Nat Rev Cancer 5:113-25 (2005)
DOI:10.1038/nrc1546
Reference
PMID:17530489 (carcinogen)
  Authors
Abnet CC.
  Title
Carcinogenic food contaminants.
  Journal
Cancer Invest 25:189-96 (2007)
DOI:10.1080/07357900701208733
Reference
PMID:9498904 (carcinogen)
  Authors
Boffetta P, Jourenkova N, Gustavsson P.
  Title
Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.
  Journal
Cancer Causes Control 8:444-72 (1997)
Reference
PMID:9498901 (carcinogen)
  Authors
Tolbert PE.
  Title
Oils and cancer.
  Journal
Cancer Causes Control 8:386-405 (1997)
Reference
PMID:16307669 (marker)
  Authors
Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.
  Title
Immunohistochemical analyses of p63 expression in cutaneous tumours.
  Journal
Br J Dermatol 153:1230-2 (2005)
DOI:10.1111/j.1365-2133.2005.06952.x
Reference
PMID:15268709 (marker)
  Authors
Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.
  Title
Expression profiles of p63, p53, survivin, and hTERT in skin tumors.
  Journal
J Cutan Pathol 31:544-9 (2004)
DOI:10.1111/j.0303-6987.2004.00228.x
Reference
(drug)
  Authors
Skeel RT (ed).
  Title
Handbook of Cancer Chemotherapy, Sixth Edition
  Journal
Lippincott Williams & Wilkins (2003)
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